Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome
Marika F. Moldenæs, Nanna Dahl Rendtorff, Lone Sandbjerg Hindbæk, Pernille Mathiesen Tørring, Øivind Nilssen, Lisbeth Tranebjærg
Topics & Concepts
Waardenburg syndromeSOX10ProbandGeneticsAlleleBiologyPAX3MedicineGeneMutationTranscription factorPhenotypeCongenital Ear and Nasal AnomaliesRNA regulation and diseasemelanin and skin pigmentation